First-trimester septated cystic hygroma, marked non-immune fetal hydrops, 45,X and coarctation of the aorta with neonatal survival.

Marked first-trimester nonimmue hydrops fetalis and 45,X with neonatal survival.

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma.

First-trimester septated cystic hygroma occurs in approximately 1 in 268 pregnancies and has long been associated with a markedly increased risk of fetal aneuploidy and, among euploid fetuses, an increased risk of structural anomalies primarily affecting the cardiac and skeletal systems. Invasive prenatal diagnosis - chorionic villus sampling and/or amniocentesis - encompasses the time-honored clinical tools for the next step in management following prenatal sonographic diagnosis of first-trimester septated cystic hygroma. Currently, prenatal cell-free DNA (cfDNA) screening for fetal aneuploidy with select microdeletions is gradually replacing the considerably less sensitive, and labor-intensive combined first-trimester screening.

Mid-trimester dilated fetal bowel leading to diagnosis of interstitial duplication 46,XX,dup(8)(q21.13q21.2) associated with extensive neonatal jejuno-ileal atresia.

Small bowel atresia constitutes congenital obstruction of the lumen of the duodenum, jejunum or ileum, and is one of the most common causes of neonatal bowel obstruction with a reported incidence of between 1.3 and 2.8 per 10,1000 live births.

Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome.

Prenatal sonographic depiction of congenital vertical talus (rocker bottom feet), describing a prominent calcaneus and rounded convex appearance of the ventral aspect of the foot, has been reported with fetal Trisomies 18, 13, 9 HOXD10 mutations and recently 2q13 microdeletion. We present a 24 year old in whom mid-trimester sonographic finding of isolated bilateral rocker bottom feet led to diagnosis of 7q11.23 microdeletion-Williams syndrome.

Mid-trimester absent nasal bone and transient unilateral hydronephrosis associated with 16p13.3 microduplication.

Characteristic phenotypic features of 16p13.3 microduplication include impaired mental development, arthrogryposis-like musculoskeletal anomalies (club-feet, congenital hip dislocation, and camptodactyly of fingers and toes), facial dysmorphology, and at times congenital cardiac disease. Most of the described affected individuals have microduplications involving the CREBBP gene.

Direct-to-consumer genetic testing companies tell their customers to 'see a genetic counselor'. How do genetic counselors feel about direct-to-consumer genetic testing?

Professional societies, the FDA, and many direct-to-consumer genetic testing (DTC-GT) companies have highlighted the value of counseling from a medical professional with genetics expertise in order to enhance the value and minimize the risks associated with DTC-GT. However, there is limited information available identifying genetic counselors' own views on DTC-GT, their willingness to counsel consumers based on DTC-GT results, and their experiences to date seeing DTC-GT consumers in a clinical setting. We surveyed genetic counselors accessed through mailing lists associated with the National Society of Genetic Counselors (NSGC) and the American Board of Genetic Counseling (ABGC).

Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion.

We describe unusual mid-trimester sonography of subtle fetal facial dysmorphic features including; flattened nasofrontal angle with an almost vertically positioned nasal bone, acute nasolabial angle, and convexity of the maxillary areas in a fetus with otherwise normal anatomy. Microarray identified a 64.5 KB interstitial deletion of 2q25.